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Article

High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse.

Investigative ophthalmology & visual science - 13 Jul 2011

Garanto Alejandro, Riera Marina, Pomares Esther, Permanyer Jon, de Castro-Miró Marta, Sava Florentina, Abril Josep F, Marfany Gemma, Gonzàlez-Duarte Roser

Abstract excerpt

PURPOSE: To shed light on the pathogenicity of the mutations in the retinitis pigmentosa gene CERKL, the authors aimed to characterize its transcriptional repertoire and focused on the use of distinct promoters and alternative splicing in human and mouse tissues. METHODS: In silico genomic and transcriptomic computational customized analysis, combined with experimental RT-PCRs on different human and murine...

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Source

Identifiers

PMID: 21508105
DOI: 10.1167/iovs.10-7101

Genes

CERKL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse.PMID 21508105Read ↗

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Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).Semantic proximity Read ↗

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Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.Semantic proximity Read ↗

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.Semantic proximity Read ↗

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